Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825358284

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 207055

ClinVar RCV Id: RCV000189209 RCV001265489

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035233.1:p.Glu430Ala	CA318117 NM_001040143.2:c.1289A>C